Mutation details:

Protein level identifier (NP_940980):

Met1869Thr

cDNA level identifier (NM_198578):

c.5606T>C

Gene level identifier:

g.126513T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

12:40717058

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

0,43 ± 0,15 (reduced)

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).